Incidental Mutation 'R7114:Flad1'
ID551669
Institutional Source Beutler Lab
Gene Symbol Flad1
Ensembl Gene ENSMUSG00000042642
Gene Nameflavin adenine dinucleotide synthetase 1
SynonymsA930017E24Rik, Pp591
MMRRC Submission
Accession Numbers

Ncbi RefSeq: NM_177041.3; MGI:2443030

Is this an essential gene? Possibly essential (E-score: 0.524) question?
Stock #R7114 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location89401004-89411870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89407530 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 287 (G287S)
Ref Sequence ENSEMBL: ENSMUSP00000051366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050398] [ENSMUST00000057431] [ENSMUST00000107426] [ENSMUST00000107429] [ENSMUST00000129308] [ENSMUST00000162701]
Predicted Effect probably benign
Transcript: ENSMUST00000050398
AA Change: G287S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051366
Gene: ENSMUSG00000042642
AA Change: G287S

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 5.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057431
SMART Domains Protein: ENSMUSP00000052968
Gene: ENSMUSG00000078173

DomainStartEndE-ValueType
Pfam:LEP503 1 61 6.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107426
AA Change: G287S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103049
Gene: ENSMUSG00000042642
AA Change: G287S

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107429
SMART Domains Protein: ENSMUSP00000103052
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 174 2.06e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129308
AA Change: G287S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122252
Gene: ENSMUSG00000042642
AA Change: G287S

DomainStartEndE-ValueType
MoCF_biosynth 19 180 7.52e-24 SMART
Pfam:PAPS_reduct 303 460 4.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162701
SMART Domains Protein: ENSMUSP00000125654
Gene: ENSMUSG00000042642

DomainStartEndE-ValueType
MoCF_biosynth 19 99 1.11e0 SMART
Meta Mutation Damage Score 0.0724 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(19) : Targeted(3) Gene trapped(16)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 120,009,619 A1291T probably benign Het
Anks1b G A 10: 90,307,698 R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 I690F probably damaging Het
Caln1 T C 5: 130,839,283 V220A possibly damaging Het
Cd79b T A 11: 106,311,887 T263S probably damaging Het
Cep290 A T 10: 100,543,358 K67N probably damaging Het
Col19a1 T C 1: 24,337,936 T443A possibly damaging Het
Col25a1 A G 3: 130,595,675 I636V probably benign Het
Col9a3 C T 2: 180,603,797 P154S unknown Het
Cyp3a11 T A 5: 145,858,783 M453L probably benign Het
Disp1 C A 1: 183,087,466 R1130L probably damaging Het
Eno1b T C 18: 48,047,493 V246A possibly damaging Het
Eogt T C 6: 97,116,004 Y404C probably damaging Het
Ephx3 T A 17: 32,185,032 E380V possibly damaging Het
Fancl T C 11: 26,407,615 L114P probably damaging Het
Gcm1 G T 9: 78,059,779 K93N probably damaging Het
Golga3 T A 5: 110,202,712 D704E probably benign Het
Grb14 A C 2: 64,916,853 I451S probably damaging Het
Gtf3c3 T C 1: 54,423,507 N366D probably benign Het
Hecw1 A T 13: 14,311,771 H376Q probably benign Het
Helb A T 10: 120,105,256 V509E probably benign Het
Hephl1 C T 9: 15,069,815 E774K probably damaging Het
Hkdc1 T C 10: 62,393,843 E685G probably damaging Het
Igfn1 T C 1: 135,966,781 T2016A probably benign Het
Igkv5-43 T G 6: 69,823,531 Q57H probably damaging Het
Lamc3 T A 2: 31,930,645 V1224E probably damaging Het
Lgals3bp C T 11: 118,393,483 W423* probably null Het
Mcm9 G A 10: 53,538,573 T137I possibly damaging Het
Mdga1 C A 17: 29,842,842 probably null Het
Mocos C T 18: 24,666,515 P269S probably damaging Het
Naa40 A G 19: 7,229,957 V134A probably damaging Het
Neb G A 2: 52,192,559 L5680F probably damaging Het
Nedd9 A G 13: 41,338,623 V137A probably benign Het
Nup133 T C 8: 123,915,373 I784V probably benign Het
Nup214 T C 2: 32,025,244 S1147P possibly damaging Het
Olfr248 A T 1: 174,391,239 M57L probably damaging Het
Olfr945 G T 9: 39,258,601 Q24K possibly damaging Het
Plcb4 T A 2: 135,982,123 probably null Het
Pomt1 C T 2: 32,253,836 T671I probably benign Het
Pomt2 G T 12: 87,110,376 P723H probably damaging Het
Prpf8 T A 11: 75,503,355 Y1741* probably null Het
Ptprs C G 17: 56,451,697 V175L probably benign Het
Slc36a4 T C 9: 15,721,954 F95L probably benign Het
Smn1 C T 13: 100,131,140 P225S probably benign Het
Snrpa A T 7: 27,191,749 I99N probably benign Het
Tgm5 G T 2: 121,048,496 Y588* probably null Het
Tmeff2 T A 1: 51,185,245 probably null Het
Tmem120b T C 5: 123,116,678 F314S probably damaging Het
Trim43b C T 9: 89,085,608 R325H probably benign Het
Vmn1r26 C T 6: 58,008,770 A145T probably benign Het
Wdfy4 T C 14: 32,971,574 probably null Het
Wnt5a C A 14: 28,522,756 T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,285,121 probably null Het
Zfp398 T C 6: 47,865,976 S321P probably benign Het
Zfp959 T A 17: 55,898,501 C513S possibly damaging Het
Zfr2 A G 10: 81,244,725 D411G probably damaging Het
Zkscan5 T A 5: 145,211,178 probably benign Het
Other mutations in Flad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Flad1 APN 3 89405853 critical splice donor site probably null
IGL02065:Flad1 APN 3 89408987 missense probably damaging 1.00
Impaler UTSW 3 89403451 missense probably damaging 0.99
R0060:Flad1 UTSW 3 89402245 nonsense probably null
R3821:Flad1 UTSW 3 89411187 missense probably damaging 1.00
R3822:Flad1 UTSW 3 89411187 missense probably damaging 1.00
R4458:Flad1 UTSW 3 89408934 missense probably benign 0.14
R4838:Flad1 UTSW 3 89405910 missense probably damaging 1.00
R5296:Flad1 UTSW 3 89411196 missense probably damaging 1.00
R6522:Flad1 UTSW 3 89403183 missense probably damaging 1.00
R6703:Flad1 UTSW 3 89408590 missense probably benign
R7000:Flad1 UTSW 3 89402242 utr 3 prime probably benign
R7127:Flad1 UTSW 3 89403418 missense probably damaging 1.00
R7365:Flad1 UTSW 3 89408665 missense possibly damaging 0.94
R7626:Flad1 UTSW 3 89403411 missense probably benign 0.02
R7662:Flad1 UTSW 3 89403451 missense probably damaging 0.99
R8097:Flad1 UTSW 3 89409135 missense probably damaging 1.00
R8296:Flad1 UTSW 3 89408802 missense probably damaging 1.00
R8332:Flad1 UTSW 3 89407521 missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGGCTGATCACCTAGCTAC -3'
(R):5'- CGGAAGAGTTTAGATTTACCCGC -3'

Sequencing Primer
(F):5'- ACGCTGACGCTGTGCTTTC -3'
(R):5'- GAGTTTAGATTTACCCGCAGAACAC -3'
Posted On2019-05-15